Cystic Fibrosis

Cystic fibrosis (CF) — a life-threatening disorder that causes severe lung damage and nutritional deficiencies. CF is an inherited (genetic) condition affecting the cells that produce mucus, sweat, saliva and digestive juices. Normally, these secretions are thin and slippery, but in CF, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the pancreas and lungs. Respiratory failure is the most dangerous consequence of CF. Each year approximately 3,200 white babies are born in the United States with CF. The disease is much less common among black and Asian-American children. Most babies born with CF are diagnosed by age 3, although mild forms of the disease may not be detected until the third, fourth or fifth decade of life. In all, about 30,000 American adults and children are living with the disorder. Although there's still no cure, the emerging field of gene therapy may someday help correct lung problems in people with CF.

Common Symptoms?

The symptoms of cystic fibrosis usually appear within the first year of life, but may not appear until late childhood or adolescence. The specific signs and symptoms of CF can vary, depending on the severity of the disease and with age. For example, one child with CF may have respiratory problems but not digestive problems, while another child may have both.

In some newborns the first sign may be a blockage of the intestines (meconium ileus). This occurs when meconium — tarry, greenish-black stools normally passed by an infant in the first day or two after birth — becomes so thick it can't move through the intestines. Other signs in newborns may include a failure to grow, bulky and greasy stools (steatorrhea), and frequent respiratory infections.

The signs and symptoms of CF in children and young adults may include:

Salty taste to the skin. People with CF tend to have two to five times the normal amount of salt (sodium chloride) in their sweat. This may be one of the first signs parents notice because they taste the salt when they kiss their child.

Blockage in the bowel.

Foul-smelling, greasy stools.

Delayed growth.

Thick sputum. It's easy for parents to overlook this symptom because infants and young children tend to swallow their sputum rather than cough it up.

Coughing or wheezing.

Frequent chest and sinus infections with recurring pneumonia or bronchitis.

Growths (polyps) in the nasal passages.

Cirrhosis of the liver due to inflammation or obstruction of the bile ducts.

Displacement of one part of the intestine into another part of the intestine (intussusception) in children older than age 4.

Protrusion of part of the rectum through the anus (rectal prolapse). This is often caused by stools that are difficult to pass or by frequent coughing.

Enlargement or rounding (clubbing) of the fingertips and toes. Although clubbing eventually occurs in most people with CF, it also occurs in some people born with heart disease and other types of lung problems.

What Causes Cystic Fibrosis?

It is most common in Caucasian-American children, occurring in about one in every 2,000 births. It is less common among African-American children, (about one in 17,000 births), and even more rare among Asian Americans (one in 100,000 births).

The mode of inheritance is autosomal, which means that it does not involve the x or y chromosomes, which determine sex. It is also recessive, which means that the disease is inherited from both parents. About five percent of Caucasian Americans (one in 28) are believed to carry the gene. Carriers do not have symptoms of the disease, and often do not even realize that they are one of more than 10 million people who carry cystic fibrosis. The number of cystic fibrosis carriers is likely to increase in the future.

This chart can help you determine the genetic probability of having a child with cystic fibrosis

Parents

Chance of Unaffected Child

Chance of Child Carrier

Chance of Child with CF

Unaffected + Carrier

50%

50%

No Chance

Two Carriers

25%

50%

25%

Unaffected + CF Patient

No Chance

100%

No Chance

Carrier + CF Patient

No Chance

50%

50%

Medications for Cystic Fibrosis

Many treatments exist for the symptoms and complications of CF. The main goal is to prevent infections, reduce the amount and thickness of secretions in the lungs, improve airflow, and maintain adequate calories and nutrition.To accomplish these objectives, treatments for CF may include:

Antibiotics. Newer antibiotics may more effectively fight the bacteria that cause lung infections in people with CF. Among these are aerosolized antibiotics that send medication directly into airways. One of the major drawbacks of long-term use of antibiotics is the development of bacteria that are resistant to drug therapy.

Mucus-thinning drugs. When your white blood cells attack bacteria in your airways, DNA in the cells is released, making the mucus in your airways even thicker. The aerosolized drug dornase alfa (Pulmozyme) is an enzyme that fragments DNA, making mucus thinner and easier to cough up. Side effects of Pulmozyme may include airway irritation and sore throat.

Bronchodilators. Use of medications such as albuterol (Proventil, Ventolin) may help keep open the bronchial tubes by clearing thick secretions.

Bronchial airway drainage. People with CF need a way to physically remove thick mucus from their lungs. This is often done by manually clapping on the front and back of the chest — a procedure that's best performed with the person's head over the edge of the bed so that gravity helps clear the secretions. In some cases an electric chest clapper, known as a mechanical percussor, is used. An inflatable vest that vibrates at high frequency can also help people with CF cough up secretions. Both adults and children with CF need to have bronchial airway drainage at least twice a day for 20 to 30 minutes. Older children and adults can learn to do this themselves, especially if they use mechanical aids such as vests and percussors. Young children need the aid of parents, grandparents or older siblings.

Exercise. Children with CF should be active. They can swim, ride bikes, run, play sports and games. Most children with CF can do any exercise they want. Exercise can: - Loosen mucus in the lungs so it can be coughed up easier; - Cause coughing, which helps clear the lungs; - Strengthen breathing muscles and the heart.

Oral enzymes and better nutrition. CF can cause you to become malnourished because the pancreatic enzymes needed for digestion don't reach your small intestine, preventing food from being absorbed. As a result, you may need many more calories than you otherwise would. Supplemental high-calorie nutrition, special vitamins and enteric-coated oral pancreatic enzymes can help you maintain or even gain weight.

Surgical Treatments

Lung transplantation. Your doctor may suggest lung transplantation if you have severe breathing problems, life-threatening pulmonary complications or increasing resistance to antibiotics used to treat lung infections. Whether you're a good candidate for the procedure depends on a number of factors, including your overall health, certain lifestyle factors and the availability of donor organs. Because both lungs are affected by CF, both need to replaced. If your chest isn't large enough to hold two adult donor lungs, your surgeon is likely to use two lower lobes contributed by two living donors. However it's performed, lung transplantation is a major operation and may lead to serious complications, especially post-surgical infections. The five-year survival rate has increased in the last 10 years, however.

CF Caregiver Well-Being

If you have a child with CF, one of the best things you can do is to learn as much as possible about the disease. Diet, medication and early recognition of infection are important.Also important is performing daily chest percussion to drain mucus from your child's lungs. Your doctor or respiratory therapist can show you the best way to perform this lifesaving procedure. In addition, the following steps can help aid your child's health:

Keep your child's immunizations up-to-date. This includes your child's pneumococcal and influenza vaccines. CF doesn't affect the immune system, but children with CF are more likely to develop complications when they become sick.

Encourage your child to lead as normal and active a life as possible. Exercise is extremely important for people of all ages who have CF. Regular exercise helps loosen mucus in your airways and strengthens your heart and lungs. And for many people with CF, participating in sports can improve confidence and self-esteem.

Make sure your child eats a healthy diet. Be sure to discuss your child's dietary needs with your doctor or a nutritionist.

Use nutrition supplements. Provide the fat-soluble vitamin supplements and pancreatic enzymes your child needs to stay as healthy as possible.

Emphasize liquids. Encourage your child to drink plenty of liquids to help loosen the mucus. This is especially important in the summer when children are active and tend to lose a lot of fluids.

Eliminate smoke. Don't smoke in your home or car, and don't allow other people to smoke around your child. Secondhand smoke is harmful for everyone, but especially for people with CF.

Encourage hand washing. Teach everyone in your family to wash their hands thoroughly before eating, after using the bathroom, when coming home from work or school, and after being around a person who is sick. Hand washing is the best way to protect against infection.

Additional Information

To stay healthy, those with cystic fibrosis need regular visits and examinations at a Cystic Fibrosis Foundation-accredited care center. These centers provide specialized care for those with cystic fibrosis. Usually patients are seen every six to eight weeks by the specialized cystic fibrosis team. This team consists of a doctor, nurse, respiratory therapist, dietitian, physical therapist, social worker and in some cases a psychologist. Knowing the change or increase in symptoms is helpful. It is important for patients with cystic fibrosis to exercise, eat healthy high calorie diets, and take their medications and treatments as directed even though the treatments take up a great deal of time.